No paralogue variants have been mapped to residue 2004 for SCN5A.
| SCN5A | -----------------------------D>F<PPSPDRDRESIV | 2016 |
| SCN1A | ------------------------------>-<--KG-------K | 2009 |
| SCN2A | ------------------------------>-<--KGKDIRESKK | 2005 |
| SCN3A | ------------------------------>-<--KGKEVRENQK | 2000 |
| SCN4A | ------------------------------>-<--VRPGVKESLV | 1836 |
| SCN7A | ------------------------------>-<-------IQSQI | 1682 |
| SCN8A | ------------------------------>-<--RQKEVRESKC | 1980 |
| SCN9A | ------------------------------>-<--KGKDSKESKK | 1977 |
| SCN10A | ------------------------------>-<--TSMELIAPGP | 1956 |
| SCN11A | ------------------------------>-<-----------D | 1791 |
| CACNA1A | -----------------------------R>S<PSEGREHMAHRQ | 2261 |
| CACNA1B | YHCTLG-LS--------------SGGR--A>R<HSYHHPDQDHWC | 2340 |
| CACNA1C | EEDA----------GCV-----RARGRPSE>E<ELQDSRVYVSSL | 2138 |
| CACNA1D | GYSD----------E-E-----PDPGR-DE>E<DLADEMICITTL | 2181 |
| CACNA1E | HYRRRR-RG-----GPG-----PGMMCGAV>N<NLLSDTEEDDKC | 2313 |
| CACNA1F | LYSD----------E-E-----SILSRFDE>E<DLGDEMACVHAL | 1977 |
| CACNA1G | ------------------------------>-<-----------P | 2377 |
| CACNA1H | DPPEKRRGLYLTVPQ-CPLEKPGSPSA--T>P<A-PG-GGADDPV | 2353 |
| CACNA1I | P--------------------PQPLPG--E>L<E-PGDAASKRKR | 2223 |
| CACNA1S | ----------------G-----SSLGSLDQ>H<QGSQETLIPPRL | 1873 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F2004L | c.6010T>C | Conflict | rs41311117 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | BrS | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | ||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Other Cardiac Phenotype | Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation. 2008 117(1):16-23. 18071069 | ||||
| Inherited Arrhythmia | BrS | Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. Am J Physiol Heart Circ Physiol. 2008 295(1):H48-58. 18456723 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | LQTS | [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. Vestn Ross Akad Med Nauk. 2007 (5):3-11. 17605181 | |||
| Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||||
| Inherited Arrhythmia | BrS | Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76. 17210841 | |||
| Inherited Arrhythmia | AF | High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Inherited Arrhythmia | BrS | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
| p.F2004V | c.6010T>G | Inherited Arrhythmia | LQTS,BrS | rs41311117 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||
| Inherited Arrhythmia | LQTS | Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace. 2013 15(7):1050-8. doi: 10.1093/europace/eus408. 23382499 | |||
| p.F2004L | c.6012C>G | Putative Benign | SIFT: Polyphen: | ||
| p.F2004I | c.6010T>A | Putative Benign | SIFT: Polyphen: | ||
| p.Phe2004Ser | c.6011T>C | Unknown | SIFT: Polyphen: | ||